V16L (p.Val16Leu) variant of ASIC1 (Acid-sensing ion channel 1)
V16L (p.Val16Leu) in ASIC1 (Acid-sensing ion channel 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- gnomAD 12-50058812-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.12
- MetaSVM -1.01
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available